Canonical Allele Identifier: CA2740096608

Gene: FBN1

Linked Data

• ClinVar Variation Id: 2935605
• ClinVar RCV Id: RCV003793699

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412753A>C , CM000677.2:g.48412753A>C	GRCh38
NC_000015.9:g.48704950A>C , CM000677.1:g.48704950A>C	GRCh37
NC_000015.8:g.46492242A>C	NCBI36
NG_008805.2:g.238036T>G , LRG_778:g.238036T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*860-10T>G	ENSP00000453958.2:n.*860-10T>G
ENST00000674301.2:c.*1565-10T>G	ENSP00000501333.2:n.*1565-10T>G
ENST00000682158.1:n.1433-10T>G
ENST00000682170.1:n.2233-10T>G
ENST00000682767.1:n.1349-10T>G
ENST00000316623.10:c.8052-10T>G MANE Select	ENSP00000325527.5:n.8052-10T>G
ENST00000674301.1:c.3218-10T>G	ENSP00000501333.1:n.3218-10T>G
ENST00000316623.9:c.8052-10T>G	ENSP00000325527.5:n.8052-10T>G
ENST00000559133.5:c.3421-10T>G
ENST00000561429.1:n.307-10T>G
NM_000138.4:c.8052-10T>G , LRG_778t1:c.8052-10T>G	NP_000129.3:n.8052-10T>G
NM_000138.5:c.8052-10T>G MANE Select	NP_000129.3:n.8052-10T>G